Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80856
Gene Symbol: LNPK
LNPK
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.400 Biomarker GENOMICS_ENGLAND Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. 30032983

2018